Results 81 to 90 of about 1,169,488 (287)

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]

, 2015
Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A, Baumgartner, Matthias R, Frazer, Kelly A, Hansen, John-Bjarne, Jepsen, Kristen, Shepard, Peter J, Smith, Erin N   +6 more
core   +1 more source

Genomic newborn screening: public health policy considerations and recommendations

BMC Medical Genomics, 2017
The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today.
Jan M Friedman, Martina C Cornel, Aaron J. Goldenberg, Karla J. Lister, K. Sénécal, D. Vears, Jan M. Martina C. Khalid Pascal David Aaron Anne Steph Friedman Cornel Al-Thihli Borry Flannery Goldenber, Jan M Friedman, Martina C Cornel, K. Al-Thihli, P. Borry, D. Flannery, Aaron J. Goldenberg, A. Junker, S. Kingsmore, N. Laing, Erick R. Scott, A. Wonkam, B. Knoppers   +18 more
semanticscholar   +1 more source

Multifunctional Biomedical Devices with Closed‐Loop Systems for Precision Therapy

Advanced Healthcare Materials, EarlyView.
This review explores two major types of closed‐loop therapeutic systems: self‐sustained and externally triggered. It highlights recent advances in stimuli‐responsive materials, integrated bioelectronics, and data‐driven control strategies, offering insight into emerging strategies for personalized, responsive drug delivery.
Yixuan Leng, Rujie Sun
wiley   +1 more source

Commercially Bottled Purified Water as an Alternative Instrument Feed Water in Automated Time-Resolved Fluorescent Immunoassay for TSH, 17-OHP and IRT in Neonatal Screening

Philippine Journal of Pathology, 2018
Objective. The study was undertaken to determine if commercially bottled purified water can be used as substitute instrument feed water for three (3) newborn screening immunoassays. Methdology.
Emilio Villanueva III, Roel Martin Bumalay, John Michael Rivera   +2 more
doaj  

School-age outcomes among IVF and ICSI-conceived children: a causal inference analysis using linked population-wide data

BMC Medicine
Background Use of intracytoplasmic sperm injection (ICSI) continues to increase as the most common mode of oocyte insemination during in vitro fertilisation (IVF), sometimes in the absence of clear indications (i.e. male factor infertility).
Amber L. Kennedy, Richard J. Hiscock, Beverley J. Vollenhoven, Catharyn J. Stern, Lyle C. Gurrin, Tiki Osianlis, Aleah Kink, Susan P. Walker, Jeanie L. Y. Cheong, Jon L. Quach, David Wilkinson, John McBain, Mark P. Green, Jessica A. Atkinson, Franca Agresta, Susan P. Baohm, Stephen Tong, Roxanne Hastie, Anthea C. Lindquist   +18 more
doaj   +1 more source

Economics and Politics of Work-Family Policy: The Case for a State Family Leave Insurance Program [PDF]

, 2009
Highlights the lack of paid sick and family leave laws and the need for family leave insurance, an employee-paid program that provides partial wage replacement when workers take time off to care for an ill family member or newborn or newly adopted ...
Eileen Appelbaum, Karen White
core  

Effects of maternal subnutrition during early pregnancy on cow hematological profiles and offspring physiology and vitality in two beef breeds [PDF]

, 2019
This experiment evaluated the effects of subnutrition during early gestation on hematology in cows (Bos Taurus) and on hematological, metabolic, endocrine, and vitality parameters in their calves.
Almaguer C., Civelek T., Fay R. A., García‐Belenguer S., Krimer P. M., Lozano M., Schafer S., Schultz R. D., Tchernia G., Tennant B.   +9 more
core   +2 more sources

Guided Bone Regeneration Membrane Materials Loaded with Chimeric Nanovesicles Promote Early Bone Defect Regeneration

Advanced Healthcare Materials, EarlyView.
Early bone regeneration is challenged by poor osteogenic microenvironments. We developed a novel guided bone regeneration (GBR) membrane: a plasma‐treated polycaprolactone (PT‐PCL) electrospun nanofiber functionalized with ultrasound sequentially extruded stromal vascular fraction chimeric vesicles (USE‐SCNVs). USE‐SCNVs require less equipment, enhance
Yufan Zhang, Yaqiong Wang, Xiaona Ning, Guichu Yue, Wenhui Zhang, Yicheng Chen, Xuelian Jia, Yu Zhang, Xiao Zhang, Zihan Lu, Simin Zhu, Fuwei Liu, Yong Zhao, Liang Kong   +13 more
wiley   +1 more source

Opportunity analysis of newborn screening programs [PDF]

There exist congenital diseases that reduce newborns' potential opportunities. This reduction is sometimes alleviated if the congenital disease is early detected thanks to a newborn screening program.
HERRERO, Carmen, MORENO-TERNERO, Juan D.
core  

Mechanical and Electrical Phenotype of hiPSC‐Cardiomyocytes on Fibronectin‐Based Hydrogels

Advanced Healthcare Materials, EarlyView.
We introduce fibronectin‐based PEG hydrogels with controlled rigidity to enable the culture of iPSC‐derived cardiomyocytes. These substrates offer an alternative to the current culture of these cells on fibronectin‐coated glass, providing enhanced structural and functional behavior. The system provides a more physiologically relevant platform to assess
Ana Da Silva Costa, Lineta Stonkute, Sara Trujillo, Mariana Azevedo Gonzalez Oliva, Francis Burton, Matthew J. Dalby, Oana Dobre, Godfrey Smith, Manuel Salmeron‐Sanchez   +8 more
wiley   +1 more source